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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728623G= , CM000670.2:g.143728623G=
GRCh38
NC_000008.10:g.144810793G= , CM000670.1:g.144810793G=
GRCh37
NC_000008.9:g.144882781G=
NCBI36
NG_016652.1:g.10122C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.838C=
MANE Select
ENSP00000373565.3:p.Gln280=
ENST00000650760.1:c.1441C=
ENSP00000499217.1:p.Gln481=
ENST00000388913.3:c.838C=
ENSP00000373565.3:p.Gln280=
ENST00000395103.2:c.18C=
NM_198488.3:c.838C=
NP_940890.3:p.Gln280=
XM_005250887.2:c.895C=
XP_005250944.1:p.Gln299=
XM_005250888.2:c.856C=
XP_005250945.1:p.Gln286=
XM_005250889.2:c.838C=
XP_005250946.1:p.Gln280=
XM_011516980.1:c.1159C=
XP_011515282.1:p.Gln387=
XM_011516981.1:c.1006C=
XP_011515283.1:p.Gln336=
XM_005250887.3:c.895C=
XP_005250944.1:p.Gln299=
XM_005250888.3:c.856C=
XP_005250945.1:p.Gln286=
XM_005250889.3:c.838C=
XP_005250946.1:p.Gln280=
XM_011516980.2:c.1441C=
XP_011515282.2:p.Gln481=
XM_011516981.2:c.1006C=
XP_011515283.1:p.Gln336=
XM_024447131.1:c.838C=
XP_024302899.1:p.Gln280=
NM_198488.4:c.838C=
NP_940890.3:p.Gln280=
NM_198488.5:c.838C=
MANE Select
NP_940890.4:p.Gln280=